Variant report

Variant	rs72671863
Chromosome Location	chr4:106650116-106650117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106646087..106647814-chr4:106648864..106651165,2	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10050159	0.83[EUR][1000 genomes]
rs10050333	0.83[EUR][1000 genomes]
rs10516525	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516526	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516527	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10516528	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10516529	0.81[EUR][1000 genomes]
rs11097901	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11722225	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11723225	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11723240	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11723639	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11724839	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11724884	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11726094	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11726124	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11726569	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11726674	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11727189	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727348	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727500	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11727735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727745	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11728044	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11728716	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11728918	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11729003	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11730354	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11730365	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11730660	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11731386	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11731417	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11731714	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11731938	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11732298	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11732629	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11732650	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733093	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11733124	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733150	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733223	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733225	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733287	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733654	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11734568	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11734571	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11735527	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11735851	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11736834	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11736859	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11737335	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11737741	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12374256	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17036066	0.81[EUR][1000 genomes]
rs17036090	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17036105	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036120	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036123	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036125	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036129	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036139	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036142	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036156	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036177	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036189	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036225	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036230	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036258	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036292	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036308	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17036310	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17036327	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17036337	0.88[AMR][1000 genomes]
rs17036341	0.81[EUR][1000 genomes]
rs17331332	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28488297	0.83[EUR][1000 genomes]
rs34072732	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35370743	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35808787	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4373160	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58775257	0.81[EUR][1000 genomes]
rs67277942	0.81[EUR][1000 genomes]
rs72669992	0.83[EUR][1000 genomes]
rs72669993	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72669995	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72669997	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72669998	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72670002	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72671805	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671808	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671809	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671810	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671811	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671815	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671820	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671824	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671826	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671828	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671835	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671836	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671837	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671840	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671844	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671849	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671853	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72671854	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671856	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671861	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671869	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671871	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671873	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671874	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671878	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671879	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671880	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671881	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671885	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671886	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671889	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671892	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671895	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671896	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673803	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673805	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673811	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673812	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673813	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673817	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673821	0.92[AMR][1000 genomes]
rs72673822	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673823	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673824	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673828	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673831	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673832	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673834	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673853	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673855	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673858	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673860	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673865	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673870	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673872	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673873	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673888	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72673889	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72673890	0.84[AMR][1000 genomes]
rs72673891	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7676975	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv879700	chr4:106643445-106745057	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106630600-106650600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:106630600-106656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:106630600-106656200	Weak transcription	Esophagus	oesophagus
4	chr4:106630800-106656000	Weak transcription	Ovary	ovary
5	chr4:106630800-106656200	Weak transcription	Left Ventricle	heart
6	chr4:106630800-106656200	Weak transcription	Thymus	Thymus
7	chr4:106630800-106658400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:106631000-106650600	Weak transcription	Fetal Brain Female	brain
9	chr4:106631000-106654600	Weak transcription	Fetal Intestine Large	intestine
10	chr4:106631000-106656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:106631000-106656200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:106631000-106658200	Weak transcription	Right Ventricle	heart
13	chr4:106631000-106659000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:106631200-106651800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:106631400-106656000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:106631400-106658800	Weak transcription	A549	lung
19	chr4:106634000-106655800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:106634000-106655800	Weak transcription	Liver	Liver
21	chr4:106634000-106693200	Weak transcription	K562	blood
22	chr4:106634600-106656200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:106635600-106651200	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:106635600-106651600	Weak transcription	NHLF	lung
25	chr4:106635600-106655600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:106635600-106656200	Weak transcription	Aorta	Aorta
27	chr4:106635600-106656200	Weak transcription	Brain Anterior Caudate	brain
28	chr4:106635600-106656800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:106635600-106658400	Weak transcription	Osteobl	bone
30	chr4:106635600-106665000	Weak transcription	HUVEC	blood vessel
31	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:106636200-106658800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:106636400-106650600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:106636400-106651600	Weak transcription	HMEC	breast
35	chr4:106636400-106651600	Weak transcription	NHDF-Ad	bronchial
36	chr4:106636400-106653200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:106636400-106656800	Weak transcription	NHEK	skin
38	chr4:106637200-106660800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:106637800-106656200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:106640800-106656000	Weak transcription	Fetal Stomach	stomach
41	chr4:106640800-106656200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:106641000-106651800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:106641000-106653400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:106641000-106656000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr4:106641200-106650600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:106641400-106650400	Weak transcription	Primary T cells from cord blood	blood
47	chr4:106641400-106650600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:106641400-106653000	Weak transcription	Placenta	Placenta
49	chr4:106641400-106656600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:106641600-106650400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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